Renan Martin

2024

De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex

Jelin, A. C., Wohler, E., Martin, R., Di Carlo, H., Isaacs, W., Ko, J., Michaud, J., Blakemore, K., Valle, D., Sobreira, N. & Gearhart, J., Apr 2024, In: American Journal of Medical Genetics, Part A. 194, 4, e63501.

Research output: Contribution to journal › Article › peer-review

2023

An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq

Kolliari-Turner, A., Lima, G., Wang, G., Malinsky, F. R., Karanikolou, A., Eichhorn, G., Tanisawa, K., Ospina-Betancurt, J., Hamilton, B., Kumi, P. Y. O., Shurlock, J., Skiadas, V., Twycross-Lewis, R., Kilduff, L., Martin, R. P., Ash, G. I., Potter, C., Guppy, F. M., Seto, J. T., Fossati, C., & 3 othersPigozzi, F., Borrione, P. & Pitsiladis, Y., Dec 2023, In: BMC Medical Genomics. 16, 1, 94.

Research output: Contribution to journal › Article › peer-review

Open Access

Systemic artery to pulmonary artery aneurysm malformations associated with variants at MCF2L

Mitchell, S. E., Martin, R. P., Terry, P., Drant, S. E., Valle, D., Dietz, H. & Sobreira, N., May 2023, In: American Journal of Medical Genetics, Part A. 191, 5, p. 1250-1260 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2022

Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome

Poll, S. R., Martin, R., Wohler, E., Partan, E. S., Walek, E., Salman, S., Groepper, D., Kratz, L., Cernach, M., Jesus-Garcia, R., Haldeman-Englert, C., Choi, Y. J., Morris, C. D., Cohen, B. A., Hoover-Fong, J., Valle, D., Semenza, G. L. & Sobreira, N. L. M., Dec 8 2022, In: PLoS genetics. 18, 12, p. 1DUMMARY e1010504.

Research output: Contribution to journal › Article › peer-review

Open Access

Functional characterization of novel variants found in patients with suspected Fabry disease

Varela-Calais, P., Nicolicht, P., Paulo Martin, R., Yamamoto, J., D'Almeida, V., Martins, A. M. & Pesquero, J. B., Sep 1 2022, In: Clinica Chimica Acta. 534, p. 156-160 5 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

CanVIG-UK, Mar 2022, In: Genetics in Medicine. 24, 3, p. 552-563 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

The impact of GeneMatcher on international data sharing and collaboration

Hamosh, A., Wohler, E., Martin, R., Griffith, S., Rodrigues, E. D. S., Antonescu, C., Doheny, K. F., Valle, D. & Sobreira, N., Jun 2022, In: Human mutation. 43, 6, p. 668-673 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Transcriptomic and histological analysis of exposed facial skin areas wrinkled or not and unexposed skin

Martin, R. P., Varela, P., Gomes, C. P., Marins, M. M., Filippelli-Silva, R., Yarak, S., Soares, J. L. M., Sanudo, A., Idkowiak-Baldys, J., Chen, S., Hwang, C., Zhuang, Y., Lyga, J., Pesquero, J. B. & Bagatin, E., Mar 2022, In: Molecular Biology Reports. 49, 3, p. 1669-1678 10 p.

Research output: Contribution to journal › Article › peer-review

Variant-level matching for diagnosis and discovery: Challenges and opportunities

Rodrigues, E. D. S., Griffith, S., Martin, R., Antonescu, C., Posey, J. E., Coban-Akdemir, Z., Jhangiani, S. N., Doheny, K. F., Lupski, J. R., Valle, D., Bamshad, M. J., Hamosh, A., Sheffer, A., Chong, J. X., Einhorn, Y., Cupak, M. & Sobreira, N., Jun 2022, In: Human mutation. 43, 6, p. 782-790 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2021

Analysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis

Motta, F. L., Filippelli-Silva, R., Kitajima, J. P., Batista, D. A., Wohler, E. S., Sobreira, N. L., Martin, R. P. & Ferraz Sallum, J. M., 2021, In: Ophthalmic genetics. 42, 5, p. 553-560 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations

Varela, P., Carvalho, G., Martin, R. P. & Pesquero, J. B., Feb 2021, In: Metabolic Brain Disease. 36, 2, p. 265-272 8 p.

Research output: Contribution to journal › Article › peer-review

Germline erbb2/her2 coding variants are associated with increased risk of myeloproliferative neoplasms

Braunstein, E. M., Chen, H., Juarez, F., Yang, F., Tao, L., Makhlin, I., Williams, D. M., Chaturvedi, S., Pallavajjala, A., Karantanos, T., Martin, R., Wohler, E., Sobreira, N., Gocke, C. D. & Moliterno, A. R., Jul 1 2021, In: Cancers. 13, 13, 3246.

Research output: Contribution to journal › Article › peer-review

Open Access

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

Cananzi, M., Wohler, E., Marzollo, A., Colavito, D., You, J., Jing, H., Bresolin, S., Gaio, P., Martin, R., Mescoli, C., Bade, S., Posey, J. E., Dalle Carbonare, M., Tung, W., Jhangiani, S. N., Bosa, L., Zhang, Y., Filho, J. S., Gabelli, M., Kellermayer, R., & 10 othersKader, H. A., Oliva-Hemker, M., Perilongo, G., Lupski, J. R., Biffi, A., Valle, D., Leon, A., de Macena Sobreira, N. L., Su, H. C. & Guerrerio, A. L., Sep 2021, In: Human genetics. 140, 9, p. 1299-1312 14 p.

Research output: Contribution to journal › Article › peer-review

Integrating Whole Blood Transcriptomic Collection Procedures Into the Current Anti-Doping Testing System, Including Long-Term Storage and Re-Testing of Anti-Doping Samples

Lima, G., Kolliari-Turner, A., Malinsky, F. R., Guppy, F. M., Martin, R. P., Wang, G., Voss, S. C., Georgakopoulos, C., Borrione, P., Pigozzi, F. & Pitsiladis, Y., Oct 26 2021, In: Frontiers in Molecular Biosciences. 8, 728273.

Research output: Contribution to journal › Article › peer-review

Open Access

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Wohler, E., Martin, R., Griffith, S., Rodrigues, E. D. S., Antonescu, C., Posey, J. E., Coban-Akdemir, Z., Jhangiani, S. N., Doheny, K. F., Lupski, J. R., Valle, D., Hamosh, A. & Sobreira, N., Dec 2021, In: Orphanet journal of rare diseases. 16, 1, 365.

Research output: Contribution to journal › Article › peer-review

Open Access

2020

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: An observational study in Brazilian patients

Varela, P., Mastroianni Kirsztajn, G., Motta, F. L., Martin, R. P., Turacą, L. T., Ferrer, H. L. F., Gomes, C. P., Nicolicht, P., Mara Marins, M., Pessoa, J. G., Braga, M. C., D'Almeida, V., Martins, A. M. & Pesquero, J. B., Jan 29 2020, In: Orphanet journal of rare diseases. 15, 1, 30.

Research output: Contribution to journal › Article › peer-review

Open Access

KIAA1217: A novel candidate gene associated with isolated and syndromic vertebral malformations

Al Dhaheri, N., Wu, N., Zhao, S., Wu, Z., Blank, R. D., Zhang, J., Raggio, C., Halanski, M., Shen, J., Noonan, K., Qiu, G., Nemeth, B., Sund, S., Dunwoodie, S. L., Chapman, G., Glurich, I., Steiner, R. D., Wohler, E., Martin, R., Sobreira, N. L., & 1 othersGiampietro, P. F., Jul 1 2020, In: American Journal of Medical Genetics, Part A. 182, 7, p. 1664-1672 9 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Pathogenicity reclasssification of RPE65 missense variants related to leber congenital amaurosis and early-onset retinal dystrophy

Motta, F. L., Martin, R. P., Porto, F. B. O., Wohler, E. S., Resende, R. G., Gomes, C. P., Pesquero, J. B. & Sallum, J. M. F., Jan 2020, In: Genes. 11, 1, 24.

Research output: Contribution to journal › Article › peer-review

Open Access

2019

Angioedema-induced by nonsteroidal anti-inflammatory drugs: A genotype-phenotype correlation in a Brazilian population

Ensina, L. F., Martin, R. P., Filippelli-Silva, R., Veronez, C. L., Sole, D. & Pesquero, J. B., 2019, In: Journal of Investigational Allergology and Clinical Immunology. 29, 4, p. 305-307 3 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Distinct roles of angiotensin receptors in autonomic dysreflexia following high-level spinal cord injury in mice

Järve, A., Todiras, M., Lian, X., Filippelli-Silva, R., Qadri, F., Martin, R. P., Gollasch, M. & Bader, M., Jan 2019, In: Experimental Neurology. 311, p. 173-181 9 p.

Research output: Contribution to journal › Article › peer-review

Genetic variation of Kallikrein-Kinin system and related genes in patients with hereditary angioedema

Veronez, C. L., Aabom, A., Martin, R. P., Filippelli-Silva, R., Gonçalves, R. F., Nicolicht, P., Mendes, A. R., Da Silva, J., Guilarte, M., Grumach, A. S., Mansour, E., Bygum, A. & Pesquero, J. B., 2019, In: Frontiers in Medicine. 6, FEB, 28.

Research output: Contribution to journal › Article › peer-review

Open Access

2018

Relative frequency of inherited retinal dystrophies in Brazil

Motta, F. L., Martin, R. P., Filippelli-Silva, R., Salles, M. V. & Sallum, J. M. F., Dec 1 2018, In: Scientific reports. 8, 1, 15939.

Research output: Contribution to journal › Article › peer-review

Open Access

Variants in the ABCA4 gene in a Brazilian population with stargardt disease

Salles, M. V., Motta, F. L., Martin, R., Filippelli-Silva, R., da Silva, E. D., Varela, P., Costa, K. A., Chiang, J. P., Pesquero, J. B. & Sallum, J. M. F., Aug 1 2018, In: Molecular vision. 24, p. 546-559 14 p.

Research output: Contribution to journal › Article › peer-review

2017

Novel complex ABCA4 alleles in Brazilian patients with stargardt disease: Genotype-Phenotype Correlation

Salles, M. V., Motta, F. L., da Silva, E. D., Varela, P., Costa, K. A., Filippelli-Silva, R., Martin, R. P., Chiang, J. P. W., Pesquero, J. B. & Sallum, J. M. F., Nov 2017, In: Investigative Ophthalmology and Visual Science. 58, 13, p. 5723-5730 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

PROM1 gene variations in Brazilian patients with macular dystrophy

Salles, M. V., Motta, F. L., Dias da Silva, E., Varela Lima Teixeira, P., Antunes Costa, K., Filippelli-Silva, R., Martin, R., Pesquero, J. B. & Ferraz Sallum, J. M., Jan 2 2017, In: Ophthalmic genetics. 38, 1, p. 39-42 4 p.

Research output: Contribution to journal › Article › peer-review

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes

Motta, F. L., Salles, M. V., Costa, K. A., Filippelli-Silva, R., Martin, R. P. & Sallum, J. M. F., Dec 1 2017, In: Scientific reports. 7, 1, 8654.

Research output: Contribution to journal › Article › peer-review

Open Access

2016

A fluorimetric binding assay for angiotensin II and kinin receptors

Martin, R. P., Filippelli-Silva, R., Rodrigues, E. S., Nakaie, C. R. & Shimuta, S. I., May 1 2016, In: Journal of Pharmacological and Toxicological Methods. 79, p. 55-59 5 p.

Research output: Contribution to journal › Article › peer-review

New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema

Cagini, N., Veronez, C. L., Constantino-Silva, R. N., Buzolin, M., Martin, R. P., Grumach, A. S., Velloso, L. A., Mansour, E. & Pesquero, J. B., Apr 1 2016, In: Biological Chemistry. 397, 4, p. 337-344 8 p.

Research output: Contribution to journal › Article › peer-review

The role of N-terminal and C-terminal Arg residues from BK on interaction with kinin B₂ receptor

Filippelli-Silva, R., Martin, R. P., Rodrigues, E. S., Nakaie, C. R., Oliveira, L., Pesquero, J. B. & Shimuta, S. I., Apr 1 2016, In: Biological Chemistry. 397, 4, p. 305-314 10 p.

Research output: Contribution to journal › Article › peer-review

2013

Binding affinities and activation of Asp712Ala and Cys100Ser mutated kinin B₁ receptor forms suggest a bimodal scheme for the molecule of bound-DABK

Rodrigues, E. S., Martin, R. P., Silva, R. F., Nakaie, C. R., Oliveira, L. & Shimuta, S. I., Feb 2013, In: Regulatory Peptides. 181, 1, p. 37-44 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Evidence that kinin B₂ receptor expression is upregulated by endothelial overexpression of B₁ receptors

Rodrigues, E. S., Silva, R. F., Martin, R. P., Oliveira, S. M., Nakaie, C. R., Sabatini, R. A., Merino, V. F., Pesquero, J. B., Bader, M. & Shimuta, S. I., Apr 2013, In: Peptides. 42, p. 1-7 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

12 Scopus citations

2011

Angiotensin II binding to angiotensin I-converting enzyme triggers calcium signaling

Guimarães, P. B., Alvarenga, É. C., Siqueira, P. D., Paredes-Gamero, E. J., Sabatini, R. A., Morais, R. L. T., Reis, R. I., Santos, E. L., Teixeira, L. G. D., Casarini, D. E., Martin, R. P., Shimuta, S. I., Carmona, A. K., Nakaie, C. R., Jasiulionis, M. G., Ferreira, A. T., Pesquero, J. L., Oliveira, S. M., Bader, M., Costa-Neto, C. M., & 1 othersPesquero, J. B., May 2011, In: Hypertension. 57, 5, p. 965-972 8 p.

Research output: Contribution to journal › Article › peer-review

2010

Role of the second disulfide bridge (Cys-Cys) in stabilizing the inactive AT₁ receptor

Martin, R. P., Da Silva Rodrigues, E., Correa, S. A. A., Oliveira, S. M. E., Mortara, R. A., Oliveira, L., Nakaie, C. R. & Shimuta, S. I., Oct 1 2010, In: Biological Chemistry. 391, 10, p. 1189-1195 7 p.

Research output: Contribution to journal › Article › peer-review

2009

Cross talk between kinin and angiotensin II receptors in mouse abdominal aorta

Rodrigues, E. S., Martin, R. P., Felipe, S. A., Bader, M., Oliveira, S. M. & Shimuta, S. I., Sep 1 2009, In: Biological Chemistry. 390, 9, p. 907-913 7 p.

Research output: Contribution to journal › Article › peer-review

Distinct binding mode of ¹²⁵I-AngII to AT₁ receptor without the Cys¹⁸-Cys²⁷⁴ disulfide bridge

Martin, R. P., Rodrigues, E. S., Pacheco, N. A. S., Corrêa, S. A. A., Oliveira, S. M., Oliveira, L., Nakaie, C. R. & Shimuta, S. I., Nov 27 2009, In: Regulatory Peptides. 158, 1-3, p. 14-18 5 p.

Research output: Contribution to journal › Article › peer-review

2008

Functional assessment of angiotensin II and bradykinin analogues containing the paramagnetic amino acid TOAC

Santos, E. L., Souza, K. D. P., Sabatini, R. A., Martin, R. P., Fernandes, L., Nardi, D. T., Malavolta, L., Shimuta, S. I., Nakaie, C. R. & Pesquero, J. B., Feb 2008, In: International immunopharmacology. 8, 2, p. 293-299 7 p.

Research output: Contribution to journal › Article › peer-review

2007

Functional expression of kinin B₁ and B₂ receptors in mouse abdominal aorta

Felipe, S. A., Rodrigues, E. S., Martin, R. P., Paiva, A. C. M., Pesquero, J. B. & Shimuta, S. I., May 2007, In: Brazilian Journal of Medical and Biological Research. 40, 5, p. 649-655 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Renan Martin

Research output

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